Encephaloceles is a neural tube defect present at birth. The defect occurs early in foetal life where the embryo's cells that form the skull do not come together to close over the brain. As a result, there is a defect in the bones of the skull that cause brain tissue to protrude from the skull. These protruding tissues are located on any part of the head but usually in the middle at the back of the head.
The cause of encephalocele is not known for sure. However, it is considered that a combination of factors that include maternal nutrition, a genetic predisposition and exposure to toxins or infections lead to the defect. Some studies have link neural tube defects to lack of folic acid, and similarly supplementing the diets with folic acid have been found to decrease the rate of these disorders.
Encephalocele can be diagnosed by prenatal ultrasound. The best finding would be to find only fluid in the protruding sac. This may go undetected and then the deformities are diagnosed immediately birth, but occasionally a small encephalocele in the nasal and forehead region. The neural tube defect is often accompanied by craniofacial abnormalities or other brain malformations, so their presence is one indication of the disorder.
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